b2b3077.2Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b3077.2Clo
• Name: Mutant line 3077, subline 2 Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 3077, subline 2 Cecilia Lo
• MGI ID: MGI:5646614
• Synonyms: Po
• Gene: b2b3077.2Clo Location: unknown
• Alliance: b2b3077.2Clo page

Mutant 3077-006-4 (E15.5) exhibits aortic atresia with accessory anterior lung lobes, hypoplastic left atrium, and thickened left ventricle wall. This is diagnosed as aortic atresia, left venricle hypertrophy, and hypoplastic left heart syndrome (HLHS) spectrum heart by ECM histopathology.

Show the 10 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Undefined
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b3077Clo. (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any b2b3077.2Clo Mutation: 0 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Hypoplastic left ventricle (LV), aortic atresia, and hypoplastic mitral, phenotypes consistent with hypoplastic left heart syndrome (HLHS).

Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic and accessory anterior lung lobes, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.


Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Codes	Code Description
1811	Hypoplastic left ventricle (subnormal cavity volume)
4163	Micrognathia
4170	Hand and/or foot anomaly
4174	Syndactyly
4401	Cleft palate and cleft lip
4512	Renal malformation
4875	Cleft lip
4876	Cleft palate
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality
300	Hypoplastic left heart syndrome
320	Aortic atresia
1515	Hypoplastic mitral valve

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 2 reference(s)